Canonical Allele Identifier: CA1752412015

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952675G= , CM000669.2:g.150952675G=	GRCh38
NC_000007.13:g.150649763G= , CM000669.1:g.150649763G=	GRCh37
NC_000007.12:g.150280696G=	NCBI36
NG_008916.1:g.30252C= , LRG_288:g.30252C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.605C=
ENST00000684116.1:n.200C=
ENST00000684241.1:n.2140C=
ENST00000262186.10:c.1307C= MANE Select	ENSP00000262186.5:p.Thr436=
ENST00000330883.9:c.287C=	ENSP00000328531.4:p.Thr96=
ENST00000262186.9:c.1307C=	ENSP00000262186.5:p.Thr436=
ENST00000330883.8:c.287C=	ENSP00000328531.4:p.Thr96=
ENST00000430723.4:c.959C=	ENSP00000387657.4:p.Thr320=
ENST00000461280.1:n.594C=
ENST00000473610.5:n.612C=
ENST00000532957.5:n.1530C=
NM_000238.3:c.1307C= , LRG_288t1:c.1307C=	NP_000229.1:p.Thr436=
NM_001204798.1:c.287C=	NP_001191727.1:p.Thr96=
NM_172056.2:c.1307C= , LRG_288t2:c.1307C=	NP_742053.1:p.Thr436=
NM_172057.2:c.287C= , LRG_288t3:c.287C=	NP_742054.1:p.Thr96=
XM_011516185.1:c.1007C=	XP_011514487.1:p.Thr336=
XM_011516186.1:c.1307C=	XP_011514488.1:p.Thr436=
XM_011516185.2:c.1007C=	XP_011514487.1:p.Thr336=
XM_011516186.3:c.1307C=	XP_011514488.1:p.Thr436=
XM_017012195.1:c.1157C=	XP_016867684.1:p.Thr386=
XM_017012196.1:c.1130C=	XP_016867685.1:p.Thr377=
NM_000238.4:c.1307C= MANE Select	NP_000229.1:p.Thr436=
NM_001204798.2:c.287C=	NP_001191727.1:p.Thr96=
NM_172057.3:c.287C=	NP_742054.1:p.Thr96=